Gene: CISD2 - Homo sapiens
Last modified: Dec 09, 2014. Release 1 • Page created: May 19, 2024
Summary
Gene Symbol | : | CISD2 | ||||||||||||||||
NCBI Gene ID | : | 493856 | ||||||||||||||||
Species | : | Homo sapiens | ||||||||||||||||
Gene Synonyms | : | CDGSH iron sulfur domain 2 | CDGSH IRON SULFUR DOMAIN PROTEIN 2 | CDGSH iron-sulfur domain-containing protein 2 | CDGSH2 | CISD2 | ENDOPLASMIC RETICULUM INTERMEMBRANE SMALL PROTEIN | endoplasmic reticulum intermembrane small protein | ERIS | MINER1 | Miner1 | mitoNEET related 1 | MITONEET-RELATED 1 | mitoNEET-related 1 protein | NAF-1 | nutrient-deprivation autophagy factor-1 | WFS2 | Wolfram syndrome 2 | ZCD2 | ZINC FINGER PROTEIN ZCD2 | zinc finger, CDGSH-type domain 2 Source: GPSDB |
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Gene Homologs | : | AgaP_AGAP004484 (Anopheles gambiae) | CG1458 (Drosophila melanogaster) | CISD2 (Bos taurus) | cisd2 (Danio rerio) | CISD2 (Gallus gallus) | CISD2 (Homo sapiens) | Cisd2 (Mus musculus) | CISD2 (Pan troglodytes) | Cisd2 (Rattus norvegicus) | LOC100429989 (Macaca mulatta) | LOC100855477 (Canis lupus familiaris) | ||||||||||||||||
Ageing Relevance Analysis | : |
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Ageing Factor Stable ID | : | AF_004784 | ||||||||||||||||
Download | : | XML |
Protein Information
Protein Name | Species | UniProt Accession Number | UniProt Entry Name | Protein Function | Sequence |
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CDGSH iron-sulfur domain-containing protein 2 | Homo sapiens | Q8N5K1 (UniProtKB/Swiss-Prot) | CISD2_HUMAN (UniProtKB/Swiss-Prot) | Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy. | View |
Observations
Ageing Phenotype
Data Type 1
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
# | Observation Stable ID | Species | Gene | Other Ageing Factor | Description | PubMed | Source | ||||
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1 | OB_009839 | Homo sapiens |
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Knockout mice for CISD2, the causative gene in Wolfram syndrome 2, show an increased mitochondrial breakdown and dysfunction accompanied by autophagic cell death. Mice exhibit multiple signs of premature aging (including prominent eyes and protruding ears, ocular abnormalities, early depigmentation of the fur, hair follicle atrophy, decreased hair density and regrowth rate, thickened dermis, significant decrease in subcutaneous adipose tissue and muscle, muscle atrophy, osteroporosis, decrease in pulmonary capacity) and have a shorten lifespan [2153]. In wild type, the expression levels of CISD2 decrease with age [2154]. | GenAge |
Data Type 2
no ageing phenotype observation—data type 2 available
Homology Analysis
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
Legend:
- #EGHG:
- Number of Experimentally Confirmed Ageing-related Genes In Homology Group
# | Observation Stable ID | Homology Group Genes | #EGHG | Description | Source | Homology Source |
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1 | OB_008255 | 2 | The HomoloGene homology group 36436 contains 2 genes with experimental evidence for ageing relevance (CISD2 - Homo sapiens | Cisd2 - Mus musculus) and 9 other genes. | AgeFactDB Homology Analysis | HomoloGene homology group 36436 |
Sequences
CISD2_HUMAN | Q8N5K1 | CDGSH iron-sulfur domain-containing protein 2 (Homo sapiens) from UniProtKB/Swiss-Prot Length: 135 10 20 30 40 50 60 70 80 90 100 110 120 130 CISD2_HUMAN 1 MVLESVARIVKVQLPAYLKRLPVPESITGFARLTVSEWLRLLPFLGVLALLGYLAVRPFLPKKKQQKDSLINLKIQKENPKVVNEINIEDLCLTKAAYCRCWRSKTFPACDGSHNKHNELTGDNVGPLILKKKEV 135
References
MeSH Terms: Only a subset of the Medical Subject Headings terms is shown: the Major Topics MeSH terms. They describe one of the main topics discussed in the article denoted by an asterisk on the MeSH term or MeSH/Subheading combination on the PubMed page. MeSH terms that belong to the Ageing MeSH are highlighted in green.
- Chen YF, Kao CH, Chen YT, Wang CH, Wu CY, Tsai CY, Liu FC, Yang CW, Wei YH, Hsu MT, Tsai SF, Tsai TF:
Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.
Genes Dev. 2009; 23: 1183-94.
PubMed (ID: 19451219), PubMed Central (ID: PMC2685531), doi:10.1101/gad.1779509
MeSH Terms: Aging, Premature/physiopathology; Aging/genetics; Aging/metabolism; Carrier Proteins/metabolism; Mitochondria/metabolism; Nerve Tissue Proteins/deficiency; Nerve Tissue Proteins/metabolism - Chen YF, Wu CY, Kirby R, Kao CH, Tsai TF:
A role for the CISD2 gene in lifespan control and human disease.
Ann N Y Acad Sci. 2010; 1201: 58-64.
PubMed (ID: 20649540), doi:10.1111/j.1749-6632.2010.05619.x
MeSH Terms: Aging; Carrier Proteins/physiology; Membrane Proteins/physiology; Mitochondria/metabolism; Nerve Tissue Proteins/physiology; Wolfram Syndrome/genetics
Sources
Ageing-related Data Sources
- AgeFactDB Homology Analysis
- GenAge
Additional Data Sources
- AgeFactDB Pipeline
- GPSDB
- HomoloGene
- NCBI Taxonomy
- PubMed
- UniProtKB/Swiss-Prot